ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.740A>G (p.Lys247Arg)

dbSNP: rs1553231833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596416 SCV000706573 uncertain significance not provided 2017-02-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506424 SCV002816314 uncertain significance Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 2021-09-08 criteria provided, single submitter clinical testing
Invitae RCV002531069 SCV003001187 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-06-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 500567). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 267 of the PEX10 protein (p.Lys267Arg).

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